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带有 X 和 Y 假染色体的高度改良基因组 。

The highly improved genome of with X and Y pseudochromosomes.

机构信息

https://ror.org/01keh0577 Department of Biochemistry and Molecular Biology, The University of Nevada, Reno, NV, USA

https://ror.org/01keh0577 Department of Agriculture, Veterinary, and Rangeland Sciences, The University of Nevada, Reno, NV, USA.

出版信息

Life Sci Alliance. 2023 Oct 9;6(12). doi: 10.26508/lsa.202302109. Print 2023 Dec.

Abstract

, the black-legged tick, is the principal vector of the Lyme disease spirochete, , and is responsible for most of the ∼470,000 estimated Lyme disease cases annually in the USA. can transmit six additional pathogens of human health significance. Because of its medical importance, was the first tick genome to be sequenced and annotated. However, the first assembly, Wikel (IscaW), was highly fragmented because of the technical challenges posed by the long, repetitive genome sequences characteristic of arthropod genomes and the lack of long-read sequencing techniques. Although has emerged as a model for tick research because of the availability of new tools such as embryo injection and CRISPR-Cas9-mediated gene editing yet the lack of chromosome-scale scaffolds has slowed progress in tick biology and the development of tools for their control. Here we combine diverse technologies to produce the Gulia-Nuss (IscGN) genome assembly and gene set. We used DNA from eggs and male and female adult ticks and took advantage of Hi-C, PacBio HiFi sequencing, and Illumina short-read sequencing technologies to produce a chromosome-level assembly. In this work, we present the predicted pseudochromosomes consisting of 13 autosomes and the sex pseudochromosomes: X and Y, and a markedly improved genome annotation compared with the existing assemblies and annotations.

摘要

黑腿蜱是莱姆病螺旋体的主要载体,也是美国每年约 47 万例莱姆病病例的主要原因。它可以传播另外六种对人类健康有重要意义的病原体。由于其医学重要性,它是第一个被测序和注释的蜱基因组。然而,第一个组装体 Wikel (IscaW) 由于节肢动物基因组特征的长重复基因组序列以及缺乏长读测序技术所带来的技术挑战而高度碎片化。尽管由于胚胎注射和 CRISPR-Cas9 介导的基因编辑等新工具的出现,已经成为蜱研究的模型,但缺乏染色体级别的支架阻碍了蜱生物学的进展和控制它们的工具的开发。在这里,我们结合了多种技术来生成 Gulia-Nuss (IscGN) 基因组组装和基因集。我们使用来自卵、雄性和雌性成蜱的 DNA,并利用 Hi-C、PacBio HiFi 测序和 Illumina 短读测序技术来生成染色体水平的组装。在这项工作中,我们展示了由 13 条常染色体和性染色体 X 和 Y 组成的预测假染色体,以及与现有组装体和注释相比明显改进的基因组注释。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/065e/10561763/e2ad292130b3/LSA-2023-02109_Fig1.jpg

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